Authors: Boneh, Avihu; Francis, Dorothy EM; Humphrey, Maureen; Upton, Helen J; Peters, Heidi L

Source: Journal of Paediatrics and Child Health, Volume 42, Number 9, September 2006 , pp. 496-498(3)

Publisher: Wiley-Blackwell

Abstract:

Aim: 

To determine the prevalence, the types and severity of hyperphenylalaninaemia (including phenylketonuria (PKU)) in Victoria and to report on a new treatment modality of PKU. Methods: 

We reviewed the medical records of all patients diagnosed with high blood phenylalanine levels by newborn screening between November 2001 and October 2004. Results: 

We identified 17 newborn babies with high levels of blood phenylalanine (total samples: 190 835). Dihydrobiopterin reductase deficiency was excluded in all babies. Five babies had persistent phenylalanine levels of 200-300, and do not receive any dietary or pharmaceutical therapy. One baby was diagnosed as having pyruvoyl tetrahydro-pterin synthase deficiency. Following reports of tetrahydrobiopterin (BH₄)-responsive PKU, we have performed a BH₄ load (20 mg/kg, 6R-5,6,7,8-tetrahydro-l-biopetrin dehydrochloride; Schricks Laboratories, Jona, Switzerland) in 10 newborn babies with PKU (one baby with a phenylalanine level of 2600 µmol/L was started on diet without prior load). Three babies had a significant response to BH₄ (>35% decrease in phenylalanine level). Protein restriction (1.2 g/kg/day) and introduction of phenylalanine-free formula, in addition to BH₄ treatment, were necessary in one patient. The other patients maintain good metabolic control with BH₄ treatment only (at ∼11 mg/kg/day) and an intake of 2-3 g protein per day. Of the nine babies who are on a full PKU diet, three have high phenylalanine tolerance (consistently >40 mg/kg/day). Conclusion: 

There is a spectrum of severity of hyperphenylalaninaemia in the population. The detection of BH₄-responsive PKU patients offers them a less restrictive dietary regimen and an improved quality of life, and may enable near normal life-style in adolescence.

Keywords: hyperphenylalaninaemia; phenylketonuria; tetrahydrobiopterin

Document Type: Research article

DOI: http://dx.doi.org/10.1111/j.1440-1754.2006.00909.x

Affiliations: 1: Metabolic Service, Genetic Health Services Victoria, Royal Children's Hospital,

Publication date: 2006-09-01

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